Présentation

La recherche : une aventure scientifique
Notre objectif : mieux comprendre les maladies génétiques pour mieux les soigner.
Ressources & publications
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J. Clin. Invest. 2020
Inherited human IFN-γ deficiency underlies mycobacterial disease.
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Proc. Natl. Acad. Sci. U.S.A.
Whole-exome sequencing to analyze population structure, parental inbreeding, ...
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J. Clin. Invest. 2019
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
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J. Clin. Immunol. 2019
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici...
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Hum. Mol. Genet. 2019
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ...